title: B-cell lymphoma in a patient with complete interferon gamma receptor 1 deficiency.
abstract: Immunosuppression-associated lymphoproliferative disorders can be related to primary as well as acquired immune disorders. Interferon gamma receptor (IFN-γR) deficiency is a rare primary immune disorder, characterized by increased susceptibility to mycobacterial infections. Here we report the first case of an Epstein Barr Virus (EBV) related B-cell lymphoma in a patient with complete IFN-γR1 deficiency. The patient was a 20-year-old man with homozygous 22Cdel in IFNGR1 resulting in complete absence of IFN-γR1 surface expression and complete lack of responsiveness to IFN-γ in vitro. He had disseminated refractory Mycobacterium avium complex and Mycobacterium abscessus infections. At age 18 he presented with new spiking fever and weight loss that was due to an EBV-positive B-cell non-Hodgkin lymphoma. Two years later he died of progressive lymphoma. IFN-γ plays an important role in tumor protection and rejection. Patients with IFN-γR deficiencies and other immune deficits predisposing to mycobacterial disease seem to have an increased risk of malignancies, especially those related to viral infections. As more of these patients survive their early infections, cancer awareness and tumor surveillance may need to become a more routine part of management.
authors.affiliation: Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA. h.bax@erasmusmc.nl
authors.forename: Hannelore I
authors.initials: HI
authors.lastname: Bax
authors.forename: Alexandra F
authors.initials: AF
authors.lastname: Freeman
authors.forename: Victoria L
authors.initials: VL
authors.lastname: Anderson
authors.forename: Per
authors.initials: P
authors.lastname: Vesterhus
authors.forename: Dan
authors.initials: D
authors.lastname: Laerum
authors.forename: Stefania
authors.initials: S
authors.lastname: Pittaluga
authors.forename: Wyndham H
authors.initials: WH
authors.lastname: Wilson
authors.forename: Steven M
authors.initials: SM
authors.lastname: Holland
mesh_terms: D000328:Adult; D003241:Consanguinity; D020031:Epstein-Barr Virus Infections / Q000235:genetics / Q000276:immunology*; D004854:Herpesvirus 4, Human / Q000502:physiology*; D006801:Humans; D007108:Immune Tolerance; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000276:immunology*; D007157:Immunologic Surveillance; D007223:Infant; D007371:Interferon-gamma / Q000276:immunology / Q000378:metabolism*; D016393:Lymphoma, B-Cell / Q000235:genetics / Q000276:immunology*; D008297:Male; D015269:Mycobacterium avium Complex / Q000502:physiology*; D015270:Mycobacterium avium-intracellulare Infection / Q000235:genetics / Q000276:immunology*; D017471:Receptors, Interferon / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics; D055815:Young Adult; D000096743:Interferon gamma Receptor
chemical_list: D007371:Interferon-gamma; D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor